719840003: Renal dysplasia with limb defect syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy\Ulbright Hodes syndrome

\Kidney lesion\Renal dysplasia\Ulbright Hodes syndrome

\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Ulbright Hodes syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ulbright Hodes syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Ulbright Hodes syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ulbright Hodes syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ulbright Hodes syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Ulbright Hodes syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Ulbright Hodes syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Ulbright Hodes syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ulbright Hodes syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ulbright Hodes syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ulbright Hodes syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ulbright Hodes syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ulbright Hodes syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Ulbright Hodes syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ulbright Hodes syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ulbright Hodes syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ulbright Hodes syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ulbright Hodes syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Renal dysplasia\Ulbright Hodes syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Ulbright Hodes syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3318121016 Renal dysplasia with limb defect syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3318122011 Renal dysplasia with limb defect syndrome en Synonym Active Case insensitive SNOMED CT core

3318123018 Ulbright Hodes syndrome en Synonym Active Case sensitive SNOMED CT core

3318124012 Renal dysplasia, mesomelia, radiohumeral fusion syndrome en Synonym Active Case insensitive SNOMED CT core

3318125013 Syndrome with characteristics of renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants, all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ulbright Hodes syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ulbright Hodes syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Ulbright Hodes syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Ulbright Hodes syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Ulbright Hodes syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Ulbright Hodes syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Ulbright Hodes syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Ulbright Hodes syndrome	Finding site	Kidney structure	true	Inferred relationship	Some	1
Ulbright Hodes syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Ulbright Hodes syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ulbright Hodes syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Ulbright Hodes syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ulbright Hodes syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Ulbright Hodes syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ulbright Hodes syndrome	Is a	Renal dysplasia	true	Inferred relationship	Some
Ulbright Hodes syndrome	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Ulbright Hodes syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Ulbright Hodes syndrome	Finding site	Limb structure	true	Inferred relationship	Some	3
Ulbright Hodes syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Ulbright Hodes syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Ulbright Hodes syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Ulbright Hodes syndrome	Finding site	Face structure	false	Inferred relationship	Some	5
Ulbright Hodes syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Ulbright Hodes syndrome	Finding site	Kidney structure	false	Inferred relationship	Some	3
Ulbright Hodes syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Ulbright Hodes syndrome	Finding site	Limb structure	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3318121016	Renal dysplasia with limb defect syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3318122011	Renal dysplasia with limb defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318123018	Ulbright Hodes syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3318124012	Renal dysplasia, mesomelia, radiohumeral fusion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318125013	Syndrome with characteristics of renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants, all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core